Canonical Allele Identifier: CA374230687

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1827652413
• gnomAD v3: 9-99142628-G-T
• gnomAD v4: 9-99142628-G-T
• MyVariant Identifiers: chr9:g.101904910G>T (hg19) ; chr9:g.99142628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142628G>T , CM000671.2:g.99142628G>T	GRCh38
NC_000009.11:g.101904910G>T , CM000671.1:g.101904910G>T	GRCh37
NC_000009.10:g.100944731G>T	NCBI36
NG_007461.1:g.42499G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.691G>T	ENSP00000449934.2:p.Glu231Ter
ENST00000552573.7:c.703G>T	ENSP00000447182.3:p.Glu235Ter
ENST00000548365.6:c.472G>T	ENSP00000448518.2:p.Glu158Ter
ENST00000549021.6:c.460G>T	ENSP00000449028.2:p.Glu154Ter
ENST00000698941.1:c.703G>T	ENSP00000514048.1:p.Glu235Ter
ENST00000698942.1:c.*694G>T	ENSP00000514049.1:n.*694G>T
ENST00000374994.9:c.898G>T MANE Select	ENSP00000364133.4:p.Glu300Ter
ENST00000374990.6:c.667G>T	ENSP00000364129.2:p.Glu223Ter
ENST00000374994.8:c.898G>T	ENSP00000364133.4:p.Glu300Ter
ENST00000549766.5:c.910G>T	ENSP00000446685.1:p.Glu304Ter
ENST00000550253.1:c.691G>T	ENSP00000450052.1:p.Glu231Ter
ENST00000552516.5:c.910G>T	ENSP00000447297.1:p.Glu304Ter
NM_001130916.1:c.667G>T	NP_001124388.1:p.Glu223Ter
NM_001130916.2:c.667G>T	NP_001124388.1:p.Glu223Ter
NM_001306210.1:c.910G>T	NP_001293139.1:p.Glu304Ter
NM_004612.2:c.898G>T	NP_004603.1:p.Glu300Ter
NM_004612.3:c.898G>T	NP_004603.1:p.Glu300Ter
XM_011518948.1:c.703G>T	XP_011517250.1:p.Glu235Ter
XM_011518949.1:c.691G>T	XP_011517251.1:p.Glu231Ter
XM_011518950.1:c.460G>T	XP_011517252.1:p.Glu154Ter
XM_011518948.2:c.703G>T	XP_011517250.1:p.Glu235Ter
XM_011518949.2:c.691G>T	XP_011517251.1:p.Glu231Ter
XM_011518950.2:c.460G>T	XP_011517252.1:p.Glu154Ter
XM_017015063.1:c.703G>T	XP_016870552.1:p.Glu235Ter
XM_024447658.1:c.691G>T	XP_024303426.1:p.Glu231Ter
NM_004612.4:c.898G>T MANE Select	NP_004603.1:p.Glu300Ter
NM_001130916.3:c.667G>T	NP_001124388.1:p.Glu223Ter
NM_001306210.2:c.910G>T	NP_001293139.1:p.Glu304Ter